Submissions for variant NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) (rs1800362)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000120977	SCV000168401	benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000205371	SCV000261883	benign	Fanconi anemia	2019-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000120977	SCV000302520	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001095332	SCV000481135	likely benign	Fanconi anemia, complementation group C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000432064	SCV000511767	likely benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV000575908	SCV000673292	benign	Hereditary cancer-predisposing syndrome	2016-08-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Integrated Genetics/Laboratory Corporation of America	RCV000432064	SCV000695429	benign	not provided	2016-04-29	criteria provided, single submitter	clinical testing	Variant summary: The c.416G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 4/4 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 508/120796 control chromosomes (6 homozygotes) at a frequency of 0.0042054. The variant was present predominantly in the African population at a frequency of 4.5% which is about 26 times of the maximal expected frequency of a pathogenic allele (0.0017678), strongli indicating this variant is benign. In addition, publications/clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign.
Mendelics	RCV000988218	SCV001137855	benign	Fanconi anemia, complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
ITMI	RCV000120977	SCV000085145	not provided	not specified	2013-09-19	no assertion provided	reference population
Leiden Open Variation Database	RCV000432064	SCV001365293	uncertain significance	not provided	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.